Dataset Information

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

ABSTRACT: BACKGROUND:Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. AIM:To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. METHODS:Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. RESULTS:In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. CONCLUSION:CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG.

SUBMITTER: Korner M

PROVIDER: S-EPMC6390315 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

Korner Mirjam M Kälin Sonja S Zweifel-Zehnder Antoinette A Fankhauser Niklaus N Nuoffer Jean-Marc JM Gautschi Matthias M

Orphanet journal of rare diseases 20190226 1

<h4>Background</h4>Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevel ...[more]

PMID: 30808388

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Project description:BACKGROUND: Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most extreme and clearly identifiable example of callosal disconnection. To date, deficits in nonliteral language comprehension, humor, theory of mind, and social reasoning have been documented in agenesis of the corpus callosum. Here, we examined a basic social ability as yet not investigated in this population: recognition of facial emotion and its association with social gaze. METHODS: Nine individuals with callosal agenesis and nine matched controls completed four tasks involving emotional faces: emotion recognition from upright and inverted faces, gender recognition, and passive viewing. Eye-tracking data were collected concurrently on all four tasks and analyzed according to designated facial regions of interest. RESULTS: Individuals with callosal agenesis exhibited impairments in recognizing emotions from upright faces, in particular lower accuracy for fear and anger, and these impairments were directly associated with diminished attention to the eye region. The callosal agenesis group exhibited greater consistency in emotion recognition across conditions (upright vs. inverted), with poorest performance for fear identification in both conditions. The callosal agenesis group also had atypical facial scanning (lower fractional dwell time in the eye region) during gender naming and passive viewing of faces, but they did not differ from controls on gender naming performance. The pattern of results did not differ when taking into account full-scale intelligence quotient or presence of autism spectrum symptoms. CONCLUSIONS: Agenesis of the corpus callosum results in a pattern of atypical facial scanning characterized by diminished attention to the eyes. This pattern suggests that reduced callosal connectivity may contribute to the development and maintenance of emotion processing deficits involving reduced attention to others' eyes.

Dataset Information

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

Publications

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

Similar Datasets

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